| Index patient | Sex | Ethnicity | Country of origin | AAO | AAE | Family history | Symptoms | Initial symptoms | Reported mutations |
|---|---|---|---|---|---|---|---|---|---|
Yes
|
♂
|
n.a.
|
n.a.
|
4
|
12
|
No
|
Microcephaly
Dysmorphic features Abnormal central motor function Short stature Dysarthria Dystonia, axial Abnormality of skeletal morphology Dystonia (any or unspecified) Developmental regression Dystonia, limb Dystonia, craniofacial Dystonia, oromandibular Show more (+9) |
Developmental regression
|